全外显子组测序技术及其在遗传性耳聋研究中的应用

摘要

In recent years, the rapid development of whole exome sequencing (WES) has brought new opportunities for the study of genetic diseases. It has been attached importance and applied to many types of genetic diseases, especially heredi⁃tary hearing loss. WES uses target capture methods to enrich sequences of coding regions of genes throughout the genome, fol⁃lowed by high-throughput sequencing of the captured fragments. This article mainly reviews the technology of whole exome sequencing as well as its recent applications to the study of hereditary hearing loss and relevant achievements.%近年来，全外显子组测序技术迅猛发展，为遗传疾病的基因研究带来了新的机遇，受到遗传学多个领域的重视与应用，其在遗传性耳聋的应用也日益受到关注。该技术先应用靶向富集技术捕获基因组的外显子区域，再通过高通量测序获得编码区序列遗传信息。本文主要介绍全外显子组测序的技术路线及在遗传性耳聋中的应用与研究成果。